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<p>Premature ovarian insufficiency (POI) is a&#xa0;major challenge for affected women with profound physical and emotional consequences. Recent evidence indicates that the prevalence of POI is actually higher than previously assumed (3.5% vs.&#xa0;1%). The etiology of POI is complex and multifactorial, involving genetic, immunological and iatrogenic factors but in most patients the underlying pathogenesis remains unidentified. In the field of genetic diagnostics current technological advances on differentiated knowledge have refined our understanding of the molecular pathological mechanisms. The implementation of next-generation sequencing (NGS), particularly whole-exome (WES) and whole-genome sequencing (WGS), has enabled the identification of novel pathogenic variants in both established and new genes associated with POI. This has increased the rate of positive genetic findings and substantially contributed to the pathogenetic clarification of POI. Approximately 20–25% of cases previously classified as idiopathic POI can now be attributed to genetic causes. Apart from the previously known X‑chromosomal loci, genes involved in DNA repair, especially homologous recombination as well as mitochondrial and metabolic pathways, have emerged as key contributors. Mutations or functional polymorphisms in these genes can accelerate ovarian aging and subsequently lead to POI. Moreover, epigenetic mechanisms are gaining in importance as environmental factors can modulate ovarian gene expression, adding another regulatory level to ovarian aging. The aim of this article is to present the current state of knowledge on the genetic causes of accelerated ovarian aging and the etiology of POI.</p>

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Update zur Prämaturen Ovarialinsuffizienz – welche genetischen Ursachen sind bekannt

  • 期刊论文

  • 发表日期：

    2025年12月19日

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  • Helena Bralo,
  • Nina Rogenhofer,
  • Katrin Schaudig,
  • Christian J. Thaler

摘要

Premature ovarian insufficiency (POI) is a major challenge for affected women with profound physical and emotional consequences. Recent evidence indicates that the prevalence of POI is actually higher than previously assumed (3.5% vs. 1%). The etiology of POI is complex and multifactorial, involving genetic, immunological and iatrogenic factors but in most patients the underlying pathogenesis remains unidentified. In the field of genetic diagnostics current technological advances on differentiated knowledge have refined our understanding of the molecular pathological mechanisms. The implementation of next-generation sequencing (NGS), particularly whole-exome (WES) and whole-genome sequencing (WGS), has enabled the identification of novel pathogenic variants in both established and new genes associated with POI. This has increased the rate of positive genetic findings and substantially contributed to the pathogenetic clarification of POI. Approximately 20–25% of cases previously classified as idiopathic POI can now be attributed to genetic causes. Apart from the previously known X‑chromosomal loci, genes involved in DNA repair, especially homologous recombination as well as mitochondrial and metabolic pathways, have emerged as key contributors. Mutations or functional polymorphisms in these genes can accelerate ovarian aging and subsequently lead to POI. Moreover, epigenetic mechanisms are gaining in importance as environmental factors can modulate ovarian gene expression, adding another regulatory level to ovarian aging. The aim of this article is to present the current state of knowledge on the genetic causes of accelerated ovarian aging and the etiology of POI.